Results 21 to 30 of about 15,843,374 (297)

Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary Findings [PDF]

Molecular Genetics & Genomic Medicine
Objective Exome sequencing (ES) has become increasingly more prevalent across maternal fetal medicine spaces when anomalies are visualized on ultrasound.
Kayleigh Avello, Shawn Gessay, Megan Nelson, Connie Schultz, Natalie Jacob   +4 more
doaj   +2 more sources

Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs) [PDF]

Biomedicines
Background: Next Generation Sequencing (NGS) Technology has represented a revolution in the molecular characterization of Inherited Retinal Dystrophies (IRDs), which are among the most genetically and phenotypically heterogeneous conditions.
Fabiana D’Esposito, Matteo Capobianco, Caterina Gagliano, Alessandro Avitabile, Giuseppe Gagliano, Gabriella Esposito, Edoardo Dammino, Antonio Carotenuto, Marco Zeppieri   +8 more
doaj   +2 more sources

SDHA secondary findings in germline testing: counseling and surveillance considerations. [PDF]

Endocr Oncol
This commentary explores the complexities faced by clinicians when encountering a secondary SDHA pathogenic variant (PV) in patients without a personal or family history of SDHA-related tumors.
Skefos CM, Brock PL, Blouch E, Greenberg SE.   +3 more
europepmc   +3 more sources

The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing

International Journal of Neonatal Screening, 2022
Recent advances in genomic sequencing technologies have expanded practitioners’ utilization of genetic information in a timely and efficient manner for an accurate diagnosis.
Calli O. Mitchell, Greysha Rivera-Cruz, Matthew Hoi Kin Chau, Zirui Dong, Kwong Wai Choy, Jun Shen, Sami Amr, Anne B. S. Giersch, Cynthia C. Morton   +8 more
doaj   +1 more source

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
https://doi.org/10.1038/s41436-021-01172 ...
David T. Miller, Kristy Lee, W. Chung, A. Gordon, G. Herman, T. Klein, D. Stewart, L. Amendola, Kathy Adelman, S. Bale, M. Gollob, S. Harrison, R. E. Hershberger, K. Mckelvey, C. Richards, C. Vlangos, M. Watson, C. Martin   +17 more
semanticscholar   +1 more source

Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings

Frontiers in Genetics, 2022
The use of whole exome sequencing (WES) in medical research is increasing in South Africa (SA), raising important questions about whether and which individual genetic research results, particularly incidental findings, should be returned to patients ...
Nicole Van Der Merwe, Nicole Van Der Merwe, Raj Ramesar, Jantina De Vries, Jantina De Vries   +4 more
doaj   +1 more source

Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants

Frontiers in Genetics, 2022
Background: Next-generation sequencing-based genetic testing represents a great opportunity to identify hereditary predispositions to specific pathological conditions and to promptly implement health surveillance or therapeutic protocols in case of ...
Stefania Martone, Stefania Martone, Autilia Tommasina Buonagura, Autilia Tommasina Buonagura, Roberta Marra, Roberta Marra, Barbara Eleni Rosato, Barbara Eleni Rosato, Federica Del Giudice, Ferdinando Bonfiglio, Ferdinando Bonfiglio, Mario Capasso, Mario Capasso, Achille Iolascon, Achille Iolascon, Immacolata Andolfo, Immacolata Andolfo, Roberta Russo, Roberta Russo   +18 more
doaj   +1 more source

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas

Genetics in Medicine Open, 2023
Purpose: Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients considering conception/reproduction (reproduction-related findings [RRFs]), deliberately ...
Lina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, Michal Levy, Gabriel A. Lidzbarsky, Nurit A. Batzir, Marina Lifshitc-Kalis, Sarit Farage-Barhom, Gali Abel, Mayra Petasny, Dana Brabbing-Goldstein, Avi Fellner, Lily Bazak   +12 more
doaj   +1 more source

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
an educational resource for medical geneticists and other clinicians to ...
David T. Miller, Kristy Lee, A. Gordon, L. Amendola, Kathy Adelman, S. Bale, W. Chung, M. Gollob, S. Harrison, G. Herman, R. E. Hershberger, T. Klein, K. Mckelvey, C. Richards, C. Vlangos, D. Stewart, M. Watson, C. Martin   +17 more
semanticscholar   +1 more source

Self-Compassion Interventions to Target Secondary Traumatic Stress in Healthcare Workers: A Systematic Review [PDF]

, 2023
Healthcare professionals’ wellbeing can be adversely affected by the intense demands of, and the secondary traumatic stress associated with, their job.
Gabby A. A. Rothwell-Blake, Ann Kirkman, Rothwell-Blake, Gabby A.A., Kotera, Yasuhiro, Rushforth, Annabel, Mia Durk, Durk, Mia, Ng, Fiona, Yasuhiro Kotera, Annabel Rushforth, Kirkman, Ann, Fiona Ng   +11 more
core   +2 more sources